ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.238+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226625 SCV003922483 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2023-03-31 criteria provided, single submitter clinical testing Variant summary: ACAT1 c.238+2T>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict there may be a significant impact on normal splicing: Two predict the variant abolishes a canonical 5' splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 251460 control chromosomes (gnomAD). To our knowledge, no occurrence of c.238+2T>C in individuals affected with Alpha-Methylacetoacetic Aciduria and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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